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Keratinopathic ichthyosis

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https://www.readbyqxmd.com/read/30036889/cryptotanshinone-from-salvia-miltiorrhiza-roots-reduces-cytokeratin-ck1-10-expression-in-keratinocytes-by-activation-of-peptidyl-prolyl-cis-trans-isomerase-fkbp1a
#1
Stefan Esch, Simone König, Bertan Bopp, Joachim Jose, Simone Brandt, Andreas Hensel
Cryptotanshinone (CTS) (1 µM) from the roots of Salvia miltiorrhiza exerts a strong influence on the terminal differentiation of human keratinocytes (HaCaT cell line, primary natural human keratinocytes) and downregulates the expression of differentiation-specific cytokeratins CK1 and CK10 on protein and gene level. Other differentiation specific proteins as involucrin, filaggrin, loricrin, and transglutaminase were not affected to a higher extent. CTS (1 µM) did not influence the cell viability and the proliferation of keratinocytes...
July 23, 2018: Planta Medica
https://www.readbyqxmd.com/read/27349861/large-intragenic-krt1-deletion-underlying-atypical-autosomal-dominant-keratinopathic-ichthyosis
#2
LETTER
Takuya Takeichi, Lu Liu, Alya Abdul-Wahab, James R McMillan, Kristina L Stone, Masashi Akiyama, Michael A Simpson, Maddy Parsons, Jemima E Mellerio, John A McGrath
No abstract text is available yet for this article.
October 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/26945532/inherited-ichthyosis-non-syndromic-forms
#3
REVIEW
Takuya Takeichi, Masashi Akiyama
Inherited ichthyoses are a group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, and often associated with erythroderma. These manifestations are due to mutations in genes mostly involved in skin barrier formation. Inherited ichthyoses consist of non-syndromic ichthyoses and ichthyosis syndromes. Non-syndromic ichthyoses are characterized by the phenotypic expression of the disorder being seen only in the skin. Non-syndromic ichthyoses include ichthyosis vulgaris, recessive X-linked ichthyosis, autosomal recessive congenital ichthyosis, keratinopathic ichthyosis and other forms...
March 2016: Journal of Dermatology
https://www.readbyqxmd.com/read/26581228/expanding-the-clinical-and-genetic-spectrum-of-krt1-krt2-and-krt10-mutations-in-keratinopathic-ichthyosis
#4
Alrun Hotz, Vinzenz Oji, Emmanuelle Bourrat, Nathalie Jonca, Juliette Mazereeuw-Hautier, Regina C Betz, Ulrike Blume-Peytavi, Karola Stieler, Fanny Morice-Picard, Ines Schönbuchner, Susanne Markus, Nina Schlipf, Judith Fischer
Twenty-six families with keratinopathic ichthyoses (epidermolytic ichthyosis, superficial epidermolytic ichthyosis or congenital reticular ichthyosiform erythroderma) were studied. Epidermolytic ichthyosis is caused by mutations in the genes KRT1 or KRT10, mutations in the gene KRT2 lead to superficial epidermolytic ichthyosis, and congenital reticular ichthyosiform erythroderma is caused by frameshift mutations in the genes KRT10 or KRT1, which lead to the phenomenon of revertant mosaicism. In this study mutations were found in KRT1, KRT2 and KRT10, including 8 mutations that are novel pathogenic variants...
May 2016: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/26381864/ichthyosis-with-confetti-clinics-molecular-genetics-and-management
#5
REVIEW
Liliana Guerra, Andrea Diociaiuti, May El Hachem, Daniele Castiglia, Giovanna Zambruno
Ichthyosis with confetti (IWC) is an autosomal dominant congenital ichthyosis also known as ichthyosis variegata or congenital reticular ichthyosiform erythroderma. It manifests at birth with generalized ichthyosiform erythroderma or with a collodion baby picture. The erythrodermic and ichthyotic phenotype persists during life and its severity may modify. However, the hallmark of the disease is the appearance, in childhood or later in life, of healthy skin confetti-like spots, which increase in number and size with time...
2015: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/24393603/prevalence-of-inherited-ichthyosis-in-france-a-study-using-capture-recapture-method
#6
Isabelle Dreyfus, Cécile Chouquet, Khaled Ezzedine, Sophie Henner, Christine Chiavérini, Aude Maza, Sandrine Pascal, Lauriane Rodriguez, Pierre Vabres, Ludovic Martin, Stéphanie Mallet, Sébastien Barbarot, Jérôme Dupuis, Juliette Mazereeuw-Hautier
BACKGROUND: Inherited ichthyoses represent a group of rare skin disorders characterized by scaling, hyperkeratosis and inconstant erythema, involving most of the tegument. Epidemiology remains poorly described. This study aims to evaluate the prevalence of inherited ichthyosis (excluding very mild forms) and its different clinical forms in France. METHODS: Capture - recapture method was used for this study. According to statistical requirements, 3 different lists (reference/competence centres, French association of patients with ichthyosis and internet network) were used to record such patients...
2014: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/24119255/nonsyndromic-types-of-ichthyoses-an-update
#7
REVIEW
Heiko Traupe, Judith Fischer, Vinzenz Oji
Ichthyoses are genetically determined Mendelian disorders of cornification (MEDOC) that are characterized by universal scaling. Today we distinguish between non-syndromic and syndromic forms. Ichthyosis vulgaris is the most frequent type (prevalence 1:100) and is caused by autosomal semi-dominant filaggrin mutations. It is associated with a higher risk for the development of atopic diseases, such as atopic eczema and allergic rhinitis. Recessive X-linked ichthyosis (RXLI) occurs almost exclusively in boys; in Germany it has a prevalence of around 1:4,000...
February 2014: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/22716242/progress-towards-genetic-and-pharmacological-therapies-for-keratin-genodermatoses-current-perspective-and-future-promise
#8
REVIEW
Jean Christopher Chamcheu, Gary S Wood, Imtiaz A Siddiqui, Deeba N Syed, Vaqar M Adhami, Joyce M Teng, Hasan Mukhtar
Hereditary keratin disorders of the skin and its appendages comprise a large group of clinically heterogeneous disfiguring blistering and ichthyotic diseases, primarily characterized by the loss of tissue integrity, blistering and hyperkeratosis in severely affected tissues. Pathogenic mutations in keratins cause these afflictions. Typically, these mutations in concert with characteristic features have formed the basis for improved disease diagnosis, prognosis and most recently therapy development. Examples include epidermolysis bullosa simplex, keratinopathic ichthyosis, pachyonychia congenita and several other tissue-specific hereditary keratinopathies...
July 2012: Experimental Dermatology
https://www.readbyqxmd.com/read/21176769/keratin-gene-mutations-in-disorders-of-human-skin-and-its-appendages
#9
REVIEW
Jean Christopher Chamcheu, Imtiaz A Siddiqui, Deeba N Syed, Vaqar M Adhami, Mirjana Liovic, Hasan Mukhtar
Keratins, the major structural protein of all epithelia are a diverse group of cytoskeletal scaffolding proteins that form intermediate filament networks, providing structural support to keratinocytes that maintain the integrity of the skin. Expression of keratin genes is usually regulated by differentiation of the epidermal cells within the stratifying squamous epithelium. Amongst the 54 known functional keratin genes in humans, about 22 different genes including, the cornea, hair and hair follicle-specific keratins have been implicated in a wide range of hereditary diseases...
April 15, 2011: Archives of Biochemistry and Biophysics
https://www.readbyqxmd.com/read/20827455/-clinical-presentation-and-etiology-of-ichthyoses-overview-of-the-new-nomenclature-and-classification
#10
REVIEW
V Oji
Ichthyoses comprise a heterogeneous group of Mendelian disorders of cornification (MEDOC) affecting the entire skin and characterized by hyperkeratosis and/or scaling. The genetic basis of almost all ichthyosis forms has been elucidated. In 2009, the worldwide first Ichthyosis Consensus Classification was approved. Its nosology is based on the clinical presentation and reflects recent pathogenic aspects. It distinguishes basically between non-syndromic and syndromic ichthyoses. The term ARCI/autosomal recessive congenital ichthyosis represents the umbrella for harlequin ichthyosis, lamellar ichthyosis and congenital ichthyosiform erythroderma...
October 2010: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/20643494/revised-nomenclature-and-classification-of-inherited-ichthyoses-results-of-the-first-ichthyosis-consensus-conference-in-sor%C3%A3-ze-2009
#11
REVIEW
Vinzenz Oji, Gianluca Tadini, Masashi Akiyama, Claudine Blanchet Bardon, Christine Bodemer, Emmanuelle Bourrat, Philippe Coudiere, John J DiGiovanna, Peter Elias, Judith Fischer, Philip Fleckman, Michal Gina, John Harper, Takashi Hashimoto, Ingrid Hausser, Hans Christian Hennies, Daniel Hohl, Alain Hovnanian, Akemi Ishida-Yamamoto, Witold K Jacyk, Sancy Leachman, Irene Leigh, Juliette Mazereeuw-Hautier, Leonard Milstone, Fanny Morice-Picard, Amy S Paller, Gabriele Richard, Matthias Schmuth, Hiroshi Shimizu, Eli Sprecher, Maurice Van Steensel, Alain Taïeb, Jorge R Toro, Pierre Vabres, Anders Vahlquist, Mary Williams, Heiko Traupe
BACKGROUND: Inherited ichthyoses belong to a large, clinically and etiologically heterogeneous group of mendelian disorders of cornification, typically involving the entire integument. Over the recent years, much progress has been made defining their molecular causes. However, there is no internationally accepted classification and terminology. OBJECTIVE: We sought to establish a consensus for the nomenclature and classification of inherited ichthyoses. METHODS: The classification project started at the First World Conference on Ichthyosis in 2007...
October 2010: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/19824737/ichthyosis-clinical-manifestations-and-practical-treatment-options
#12
REVIEW
Vinzenz Oji, Heiko Traupe
Ichthyoses constitute a large group of cornification disorders that affect the entire integument. The skin is characterized by visible scaling and in many cases by inflammation, for example, in bullous/keratinopathic ichthyosis or Netherton syndrome. From the viewpoint of classification it is useful to distinguish non-syndromic from syndromic types of ichthyosis. Ichthyosis vulgaris and recessive X-linked ichthyosis are common disorders - often of delayed onset, in contrast to congenital ichthyoses, which belong to the group of rare diseases and present at birth with either the features of collodion membrane or congenital ichthyosiform erythroderma...
2009: American Journal of Clinical Dermatology
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